目的　报道芳香族L-氨基酸脱羧酶缺乏症（AADCD）患儿的临床表现及基因特征。方法　分析2例AADCD 患儿的临床资料及基因结果，并复习相关文献。结果　2例女性患儿，均为新生儿期起病，表现为喂养困难、运动发育落后、 眼球震颤、痉挛发作。 2例患儿均于1岁余行基因检测，发现DDC基因第13外显子的杂合突变c.1234C>T，例1来源于母 亲，例2来源于父亲；同时例1和例2也均携带新的杂合突变c.170 A > G（p.I57T）和c.179 T > C（p.V60A），临床意义不明。 结论　2例AADCD患儿均有典型临床表现，早期基因检测识别确诊有助于改善预后。

Objective　To report clinical manifestations and genetic characteristics of 2 cases with aromatic L-amino acid decarboxylase deficiency (AADCD). Methods　Clinical data and genetic results of two cases with AADCD were collected and analyzed, and related literature was reviewed. Results　Both cases were female, and the main clinical manifestations were feeding difficulty, backward motor development, nystagmus and convulsion. Genetic test found patient 1 carried compound heterozygous mutation c.1234C>T in the exon 13 and c.170 A > G (p.I57T) in DDC, and patient 2 carried compound heterozygous mutation c.1234C>T in the exon 13 and c.179 T > C (p.V60A) in DDC. In addition, c.170 A > G (p.I57T) and c.179 T > c (p.V60A) were novel variants with unknown significance. Conclusion　These two AADCD children both had typical clinical manifestations. The disease was rare and complex, and early diagnosis is helpful to improve prognosis.